Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP573795.RABj-LXQNmJpGXbcefky9VC7-t7hDotItbTQLEwiouWF4130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP573795.RABj-LXQNmJpGXbcefky9VC7-t7hDotItbTQLEwiouWF4130_assertion type Assertion NP573795.RABj-LXQNmJpGXbcefky9VC7-t7hDotItbTQLEwiouWF4130_head.
- NP573795.RABj-LXQNmJpGXbcefky9VC7-t7hDotItbTQLEwiouWF4130_assertion description "[Mutations in the skeletal-muscle ryanodine-receptor gene (RYR1) are associated with malignant hyperthermia susceptibility and the congenital myopathies central core disease and multiminicore disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP573795.RABj-LXQNmJpGXbcefky9VC7-t7hDotItbTQLEwiouWF4130_provenance.
- NP573795.RABj-LXQNmJpGXbcefky9VC7-t7hDotItbTQLEwiouWF4130_assertion evidence source_evidence_literature NP573795.RABj-LXQNmJpGXbcefky9VC7-t7hDotItbTQLEwiouWF4130_provenance.
- NP573795.RABj-LXQNmJpGXbcefky9VC7-t7hDotItbTQLEwiouWF4130_assertion SIO_000772 17033962 NP573795.RABj-LXQNmJpGXbcefky9VC7-t7hDotItbTQLEwiouWF4130_provenance.
- NP573795.RABj-LXQNmJpGXbcefky9VC7-t7hDotItbTQLEwiouWF4130_assertion wasDerivedFrom befree-2016 NP573795.RABj-LXQNmJpGXbcefky9VC7-t7hDotItbTQLEwiouWF4130_provenance.
- NP573795.RABj-LXQNmJpGXbcefky9VC7-t7hDotItbTQLEwiouWF4130_assertion wasGeneratedBy ECO_0000203 NP573795.RABj-LXQNmJpGXbcefky9VC7-t7hDotItbTQLEwiouWF4130_provenance.